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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-81177891-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81177891&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 81177891,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000525539.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.2353G>T",
"hgvs_p": "p.Gly785Cys",
"transcript": "ENST00000525539.5",
"protein_id": "ENSP00000434417.1",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 2458,
"cds_start": 2353,
"cds_end": null,
"cds_length": 7379,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.298G>T",
"hgvs_p": "p.Gly100Cys",
"transcript": "ENST00000533478.5",
"protein_id": "ENSP00000434644.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 1773,
"cds_start": 298,
"cds_end": null,
"cds_length": 5324,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.298G>T",
"hgvs_p": "p.Gly100Cys",
"transcript": "ENST00000531391.5",
"protein_id": "ENSP00000436309.1",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 306,
"cds_start": 298,
"cds_end": null,
"cds_length": 921,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Gly312Cys",
"transcript": "ENST00000526632.5",
"protein_id": "ENSP00000436389.1",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 518,
"cds_start": 934,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.682G>T",
"hgvs_p": null,
"transcript": "ENST00000299598.11",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.270G>T",
"hgvs_p": null,
"transcript": "ENST00000529791.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.*350G>T",
"hgvs_p": null,
"transcript": "ENST00000710634.1",
"protein_id": "ENSP00000518389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.2368G>T",
"hgvs_p": null,
"transcript": "NR_126532.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "n.*350G>T",
"hgvs_p": null,
"transcript": "ENST00000710634.1",
"protein_id": "ENSP00000518389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.205+1754G>T",
"hgvs_p": null,
"transcript": "ENST00000527937.1",
"protein_id": "ENSP00000432818.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"hgvs_c": "c.-63G>T",
"hgvs_p": null,
"transcript": "ENST00000715690.1",
"protein_id": "ENSP00000520501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PKD1L2",
"gene_hgnc_id": 21715,
"dbsnp": "rs9935113",
"frequency_reference_population": 0.17955023,
"hom_count_reference_population": 27320,
"allele_count_reference_population": 289714,
"gnomad_exomes_af": 0.177853,
"gnomad_genomes_af": 0.195881,
"gnomad_exomes_ac": 259960,
"gnomad_genomes_ac": 29754,
"gnomad_exomes_homalt": 24172,
"gnomad_genomes_homalt": 3148,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001959770917892456,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.706,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8464,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.191,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000525539.5",
"gene_symbol": "PKD1L2",
"hgnc_id": 21715,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2353G>T",
"hgvs_p": "p.Gly785Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}